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Rare Diseases: Upcoming Documentaries (06.19.13)

June 19, 2013

This is a third in a series on rare diseases and the movies. This Blog Post reviews several upcoming scheduled documentaries.

I – “The Life We Live”

Ambry Genetics, located in Aliso Viejo, California, and the Spooner family, invite people to a local screening of the documentary, “The life we live”, on June 19, 2013, 6:00-9:00 PM. The world-wide premier of the documentary is scheduled to debut on Thursday, June 20, 2013. It is the story of the Spooner family’s 14-year struggle to get a diagnosis for their two daughters for a rare disorder. With the help of exome sequencing, the Spooner family gets answers. The documentary is a collaboration between three organizations:

•   Ambry Genetics
•   UC Irvine Division of Genetics and Metabolism
•   Global Genes/RARE Project.

“We decided to share our story in such a personal way in hopes that we can help other families around the world,” said Cristy Spooner. “There was a time when accepting that we may never know what afflicted our daughters was reality, then, coming across cutting-edge testing such as exome sequencing changed our lives. We hope our story can help another family fight their brave battle.”

II –LAM Health Project – “Living & Breathing”

The LAM Health Project (LHP), is created to “embrace a more radical form of science; a patient-centered, patient directed approach to data gathering, observation, and assessment both in conjunction with and outside of traditional science, patient by patient.”

Lymphangioleiomyomatosis (LAM) is a rare lung disease found mostly in women that results in progressive cystic lung destruction. Besides the lungs, LAM can affect other organs including lymph nodes and kidneys. LAM is a “destructive, metastasizing neoplasm of smooth muscle-like cells that leads to progressive cystic lung disease. There is currently no cure or FDA-approved drug for LAM. There are approximately 200,000 LAM patients worldwide.

There is a scheduled LAM Fundraiser in New York, June 20, 2013, 6:00-8:00 PM. The fundraiser features guest speakers as well as the director and producer of the first LAM documentary, “Living & Breathing”, which follows the lives of three women “re-inventing themselves after being diagnosed with LAM.”

III – “Life According To Sam”

The documentary, “Life According to Sam”, is the journey of Sam and his family who have spent their lives to find a cure for the rare disease Progeria. Sam is diagnosed with Progeria in 1998. Progeria is a deadly accelerated aging disease. The documentary is directed by two Oscar-winning filmmakers, Sean and Andrea Fine. The upcoming schedule:

•    AFI Docs (annual documentary film festival held in various venues in the Washington, D.C. area) as follows :
–  Saturday, June 22, 2013, 11:00 AM at Goethe-Institut
–  Sunday, June 23, 2013, 1:15 PM at AFI Silver Theatre
•    Nantucket (Massachusetts) Film Festival as follows:
–  Friday, June 28, 2013, 5:00 PM
–  Saturday, June 29, 12:00 PM.

Please Note: “Media-film” by RRZEicons (Own work) [CC-BY-SA-3.0] | Wikimedia Commons.

Copyright © 2012-2013, Orphan Druganaut Blog. All rights reserved.

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